方法：筛选出患长qt综合征1型的家庭成员，并鉴定KCNQ1基因中一个常染色体显性遗传突变基因(R190 Q)。
Methods We screened a family affected by long-QT syndrome type 1 and identified an autosomal dominant missense mutation (R190Q) in the KCNQ1 gene.
所查杯状耳均无耳聋病史及其它部位畸形。结论：杯状耳的形成是由父母双方中一方杯状耳基因决定的，家系分析显示为常染色体显性遗传。
Conclusion:The family investigation suggested that the formation of cup ear was determined by the cup ear gene of an affected parent and it was an autosomal dominant inheritance.
目的：研究华东地区汉族人常染色体显性遗传性多囊肾病(adpkd)基因型与临床表现型的关系。
Objective: to analyze the relationship between the genotype and phenotype of autosomal dominant polycystic kidney disease (ADPKD) in Han nationality in East China.
目前根据遗传方式分为1型（常染色体显性）和2型（常染色体隐性） ，每一型根据不同基因缺陷又分为许多亚型。
The limb-girdle muscular dystrophies are divided into two types according to inheritance pattern, type 1 is autosomal dominant and type 2 is autosomal recessive.
利手和叠腿很可能均为常染色体单基因遗传，利手右型和叠腿右型分别为显性性状；
The hereditary mode of handedness or folding leg was likely the dominant heredity of single gene of autosome, and the right type of them was the dominant character.
卷舌和尖舌均为常染色体单基因显性遗传，能卷舌型和能尖舌型分别为显性性状；
The hereditary mode of rolling tongue or pointed tongue was the dominant heredity of single gene of autosome, and the can-rolling type or can-pointed type was the dominant character.
对2个完整的三代家系和51个核心家系的系谱分析，发现瓣状甲的遗传特点与常染色体单基因显性性状一致。
Analyzing the data of 51 nuclear families and 2 families with 3 generations, it was found that petaloid toenail had the same hereditary characters as a dominant single-gene trait.
单倍型分析显示先证者及女儿具有相同的致病单倍型。结论报道了中国人常染色体显性遗传ed MD患者的表现型及基因型。
Haplotype analysis indicated that the proband and her daughter Shared the same causative haplotype. Conclusion This is the first report of the phenotype and genotype of AD-EDMD in Chinese.
单倍型分析显示先证者及女儿具有相同的致病单倍型。结论报道了中国人常染色体显性遗传ed MD患者的表现型及基因型。
Haplotype analysis indicated that the proband and her daughter Shared the same causative haplotype. Conclusion This is the first report of the phenotype and genotype of AD-EDMD in Chinese.
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